Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Q137_V138Splc
Back to variants list

RPS19

NM_001022.4:p.Q137_V138Splc

Associated Papers

Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.

Takafuji S et al.

Pediatric Hematology and Oncology, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."